Expansion Area 3 (EA3) studies

Expansion Area 3 (EA3) studies aim to acquire additional clinical data relevant for specific diseases and not covered by current registries in FinnGen.

Many complex diseases have different disease trajectories and underlying causes. The life-long healthcare data available in national health registers provide a strong tool to tackle the problem of disease progression. However, as the register data do not include quantitative measures, like biomarkers (laboratory values, physiological measures, symptoms, hospital administered drugs, tumor pathology data; or disease-specific composite phenotypes) some study designs might not be possible or will suffer from specificity. To improve the quality of disease trajectory studies, EA3 studies were designed to focus on clinical data for phenotype validation and patient stratification.

There are 8 EA3 studies in FinnGen:

• Fatty liver disease (FLD)

• Age-related macular degeneration (AMD)

• Women’s health (subprojects: PCOS, Endometriosis and Cervical dysplasia)

• Diabetes and rare kidney diseases

• Oncology (subprojects: Breast, Prostate and Ovarian cancer)

• Pulmonology

• Immune-mediated diseases (subprojects Rheumatic diseases and IBD)

• Heart failure

How to access EA3 data:

EA3 data is to be used only as stated in the respective EA3 study plan and need an accepted Analysis proposal as all FinnGen studies. If you are interested to use the EA3 data:

1. Check the existing EA3 study plan.

2. Fill in the FinnGen Analysis proposal template

a) Analysis proposal is covered by the EA3 study plan

• Discuss first with the admin team ([e-mail]) and EA3 Task Force that there are no dublicate work done

• Needs Scientific Committee approval

b) Analysis proposal is not covered by the EA3 study plan

• You can amend your study plan to be inline with the EA3 study plan

  • Discuss with the admin team ([e-mail]) and EA3 Task Force to revise the analysis proposal and resubmit it

c) Analysis proposal not covered by the EA3 study plan (this is not encouraged)

• Amendment to Ethics Committee and Biobanks for additional use of the data can be made

  • Needs support by the majority of FinnGen partners

  • Amendments will be prepared together with the admin team ([e-mail]) and (EA3 Task Force)